Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

3 structures for Q13601

Entry ID Method Resolution Chain Position Source
7MQ8 EM 360 A NY 1-381 PDB
7MQ9 EM 387 A NY 1-381 PDB
AF-Q13601-F1 Predicted AlphaFoldDB

297 variants for Q13601

Variant ID(s) Position Change Description Diseaes Association Provenance
rs763042419
CA6693313
2 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA385814439
rs763042419
2 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs980660589
CA239316695
2 A>V No ClinGen
TOPMed
rs769934831
CA6693311
3 S>F No ClinGen
ExAC
gnomAD
CA6693312
rs773362154
3 S>P No ClinGen
ExAC
gnomAD
rs980996973
CA385814407
4 P>A No ClinGen
TOPMed
gnomAD
CA6693310
rs748668238
4 P>L No ClinGen
ExAC
gnomAD
rs980996973
CA239316685
4 P>S No ClinGen
TOPMed
gnomAD
CA385814387
COSM1299866
rs1309560214
5 S>L Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1374062751
CA385814378
6 L>P No ClinGen
TOPMed
gnomAD
rs1374062751
CA385814379
6 L>Q No ClinGen
TOPMed
gnomAD
rs769201553
CA6693308
7 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs780242758
CA6693306
8 R>L No ClinGen
ExAC
gnomAD
CA6693307
rs780242758
8 R>Q No ClinGen
ExAC
gnomAD
rs758092492
CA6693305
9 P>L No ClinGen
ExAC
gnomAD
rs749988147
CA6693304
10 E>G No ClinGen
ExAC
TOPMed
rs1165441053
CA385814328
10 E>Q No ClinGen
gnomAD
CA6693302
rs756758474
11 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA6693301
rs200760522
11 K>N No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 12 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs764001652
CA6693300
12 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs140534370
CA6693298
13 A>S No ClinGen
1000Genomes
ExAC
gnomAD
rs140534370
CA385814277
13 A>T No ClinGen
1000Genomes
ExAC
gnomAD
CA6693297
rs767163062
13 A>V No ClinGen
ExAC
gnomAD
rs1234203493
CA385814253
14 G>R No ClinGen
TOPMed
CA6693296
rs763247888
15 K>E No ClinGen
ExAC
gnomAD
CA385814209
rs1207936006
16 S>G No ClinGen
gnomAD
CA385814193
rs1355412947
16 S>R No ClinGen
gnomAD
CA239316624
rs867762931
20 N>T No ClinGen
Ensembl
CA6693295
rs773238416
20 N>Y No ClinGen
ExAC
gnomAD
rs1241930793
CA385814114
21 Q>K No ClinGen
gnomAD
CA6693294
rs770064660
23 P>L No ClinGen
ExAC
gnomAD
rs777326564
CA6693292
25 P>A No ClinGen
ExAC
CA385812768
rs1374324789
32 E>K No ClinGen
TOPMed
rs762022873
CA6693270
33 L>P No ClinGen
ExAC
gnomAD
CA385812738
TCGA novel
rs1594070512
34 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
Ensembl
CA6693268
COSM1364232
rs375387200
35 T>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1262158200
CA385812723
35 T>S No ClinGen
gnomAD
CA6693266
rs775857215
36 V>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 36 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1218125523
CA385812694
37 P>L No ClinGen
gnomAD
TCGA novel 38 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs998489326
CA239314373
39 G>V No ClinGen
TOPMed
gnomAD
CA385812599
rs776489825
43 P>L No ClinGen
TOPMed
gnomAD
CA239314359
rs776489825
43 P>R No ClinGen
TOPMed
gnomAD
CA6693264
rs17115182
43 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6693262
rs770604908
COSM3739880
44 A>S liver [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs759423516
CA239314346
45 F>* No ClinGen
gnomAD
rs748887670
CA6693261
47 K>E No ClinGen
ExAC
gnomAD
rs1042725976
CA239314337
50 N>S No ClinGen
TOPMed
CA239314325
rs949822941
51 P>H No ClinGen
TOPMed
CA385812471
rs949822941
51 P>R No ClinGen
TOPMed
CA239314312
rs947055632
53 G>E No ClinGen
TOPMed
gnomAD
CA6693260
rs777274509
53 G>R No ClinGen
ExAC
gnomAD
CA239314307
rs915557862
55 L>S No ClinGen
Ensembl
CA385812272
rs1418588553
59 S>G No ClinGen
gnomAD
TCGA novel 60 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA385812238
rs1182219021
60 F>Y No ClinGen
gnomAD
rs549769836
CA6693257
61 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA239314280
rs549769836
61 A>T Variant assessed as Somatic; 9.252e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA385812157
rs766235946
63 L>S No ClinGen
ExAC
TOPMed
gnomAD
CA6693254
rs766235946
63 L>W No ClinGen
ExAC
TOPMed
gnomAD
CA239314266
rs930571667
68 R>G No ClinGen
TOPMed
gnomAD
CA239314260
rs17851432
69 E>G No ClinGen
Ensembl
CA6693253
rs757568169
72 L>F No ClinGen
ExAC
gnomAD
rs1272825497
CA385811942
73 K>E No ClinGen
gnomAD
CA6693252
rs754046671
74 E>V No ClinGen
ExAC
gnomAD
rs1282670313
CA385811754
79 V>A No ClinGen
gnomAD
CA6693250
rs150984893
81 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs760659380
CA6693249
82 A>S No ClinGen
ExAC
gnomAD
CA6693248
rs371580619
83 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 84 N>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1464053060
CA385811630
84 N>S No ClinGen
gnomAD
CA6693246
rs760053121
85 E>G No ClinGen
ExAC
CA239314206
rs928486257
86 H>R No ClinGen
TOPMed
rs901920174
CA239312852
87 H>R No ClinGen
TOPMed
rs761486193
CA6693217
87 H>Y No ClinGen
ExAC
rs1288447103
CA385810748
89 N>D No ClinGen
gnomAD
CA385810732
rs1316452407
90 A>T No ClinGen
gnomAD
rs776026711
CA6693209
90 A>V No ClinGen
ExAC
gnomAD
CA6693208
rs768145943
91 T>A No ClinGen
ExAC
gnomAD
rs1302392218
CA385810674
93 D>E No ClinGen
gnomAD
rs780127865
CA6693206
95 I>S No ClinGen
ExAC
gnomAD
rs141363529
CA6693204
96 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1452569798
CA385810625
97 G>S No ClinGen
gnomAD
rs778731569
CA6693203
99 M>T No ClinGen
ExAC
gnomAD
rs559522979
CA239312805
105 K>* No ClinGen
gnomAD
rs752910893
CA6693201
106 K>T No ClinGen
ExAC
TOPMed
gnomAD
rs752116384
CA6693198
111 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs752116384
CA6693199
111 Y>F No ClinGen
ExAC
TOPMed
gnomAD
CA239312743
rs914536259
112 I>S No ClinGen
Ensembl
rs914536259
CA385810346
112 I>T No ClinGen
Ensembl
CA6693196
rs763346738
112 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA6693195
rs114239473
113 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA385810282
rs1468644744
115 R>K No ClinGen
TOPMed
rs761376479
CA6693193
124 A>S No ClinGen
ExAC
gnomAD
TCGA novel 126 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA385810025
rs1283686002
129 F>L No ClinGen
TOPMed
gnomAD
rs775611984
CA6693189
131 Q>H No ClinGen
ExAC
gnomAD
CA6693141
rs774337591
132 A>G No ClinGen
ExAC
CA6693142
rs759400330
132 A>S No ClinGen
ExAC
rs749084587
CA6693139
133 V>I No ClinGen
ExAC
gnomAD
rs11540407
VAR_049680
CA6693138
134 R>Q No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA385809820
rs1242673336
136 L>F No ClinGen
TOPMed
gnomAD
rs1319278521
CA385809768
138 D>G No ClinGen
TOPMed
CA239312380
rs554807424
138 D>N No ClinGen
1000Genomes
gnomAD
CA385809741
rs1248348155
139 D>G No ClinGen
gnomAD
rs1248348155
CA385809738
139 D>V No ClinGen
gnomAD
TCGA novel 140 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA385809722
rs1195110433
140 V>I No ClinGen
gnomAD
CA239312374
rs778224926
141 A>P No ClinGen
TOPMed
gnomAD
CA385809711
rs778224926
141 A>T No ClinGen
TOPMed
gnomAD
rs1016978782
CA239312372
142 C>R No ClinGen
Ensembl
CA6693136
rs768895750
143 D>H No ClinGen
ExAC
gnomAD
rs768895750
CA385809673
143 D>N No ClinGen
ExAC
gnomAD
rs747184760
CA6693135
146 K>I No ClinGen
ExAC
gnomAD
rs780120414
CA6693133
148 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA6693131
rs746421178
149 S>C No ClinGen
ExAC
gnomAD
CA6693132
rs746421178
149 S>F No ClinGen
ExAC
gnomAD
rs774242188
CA239312326
152 R>G No ClinGen
Ensembl
CA385809476
rs1391289689
153 N>D No ClinGen
gnomAD
CA385809468
rs1391967461
153 N>I No ClinGen
gnomAD
rs757605341
CA385809462
153 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA6693128
rs754262328
154 K>R No ClinGen
ExAC
CA239312315
rs115453918
159 K>R No ClinGen
1000Genomes
rs1006843823
CA385809321
160 R>* No ClinGen
TOPMed
gnomAD
rs1006843823
CA239312305
160 R>G No ClinGen
TOPMed
gnomAD
CA385809320
rs1441652902
160 R>Q No ClinGen
TOPMed
gnomAD
rs954096801
CA239312300
161 R>G No ClinGen
gnomAD
CA385809308
rs1398418992
161 R>K No ClinGen
TOPMed
rs1271622488
CA385809285
162 Q>R No ClinGen
TOPMed
gnomAD
CA385809268
rs1181050757
163 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA6693126
rs114719907
163 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs755848514
CA6693125
167 P>R No ClinGen
ExAC
gnomAD
CA385809197
rs1334373011
168 K>E No ClinGen
TOPMed
rs200862058
CA6693124
168 K>R No ClinGen
1000Genomes
ExAC
gnomAD
rs370067745
COSM1513133
CA6693123
169 G>V lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1490108584
CA385809162
170 S>Y No ClinGen
gnomAD
rs758128238
CA239312262
171 T>A No ClinGen
Ensembl
rs759069916
CA385809126
172 L>* No ClinGen
ExAC
gnomAD
rs1352986918
CA385809137
172 L>M No ClinGen
TOPMed
CA6693122
rs759069916
172 L>S No ClinGen
ExAC
gnomAD
CA6693106
rs780966094
174 A>T No ClinGen
ExAC
gnomAD
CA6693103
rs765756898
176 E>D No ClinGen
ExAC
gnomAD
rs765074465
CA6693099
180 N>D No ClinGen
ExAC
gnomAD
rs761575297
CA6693098
181 C>Y No ClinGen
ExAC
gnomAD
CA239312163
rs200385352
183 I>V No ClinGen
TOPMed
gnomAD
CA6693096
rs772372057
186 Q>E No ClinGen
ExAC
gnomAD
CA6693095
rs148121880
186 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1208433509
CA6693093
190 V>I No ClinGen
Ensembl
CA239312132
rs369851209
191 S>P No ClinGen
ESP
TOPMed
CA6693092
rs774506696
193 I>V No ClinGen
ExAC
rs770852853
CA6693091
196 F>S No ClinGen
ExAC
gnomAD
TCGA novel 197 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6693090
rs749880529
197 S>R No ClinGen
ExAC
gnomAD
TCGA novel 198 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs866858892
CA239312107
198 G>V No ClinGen
Ensembl
rs1468083261
CA385808624
200 K>E No ClinGen
TOPMed
CA6693071
rs376056617
205 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1415938217
CA385808021
210 M>I No ClinGen
TOPMed
CA6693068
rs777069443
210 M>T No ClinGen
ExAC
gnomAD
CA6693069
rs748619176
210 M>V No ClinGen
ExAC
gnomAD
CA6693067
rs768837362
212 N>H No ClinGen
ExAC
gnomAD
rs771353668
CA239311371
212 N>S No ClinGen
TOPMed
CA239311394
rs771353668
212 N>T No ClinGen
TOPMed
rs1452024737
CA385807973
213 I>T No ClinGen
TOPMed
gnomAD
rs746743291
CA6693066
215 P>A No ClinGen
ExAC
gnomAD
rs1299851554
CA385807937
215 P>Q No ClinGen
gnomAD
CA6693064
rs544886803
217 Y>F No ClinGen
1000Genomes
ExAC
gnomAD
CA6693031
rs748618258
221 S>* No ClinGen
ExAC
rs201035934
CA6693029
223 M>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1316361236
CA385807608
226 R>T No ClinGen
gnomAD
rs1225230836
CA385807585
227 E>D No ClinGen
TOPMed
gnomAD
CA6693028
rs376593401
227 E>V No ClinGen
ESP
ExAC
gnomAD
CA385807542
rs1282383203
230 K>I No ClinGen
gnomAD
rs372563816
CA239310431
231 D>E No ClinGen
ESP
TOPMed
rs1363642515
CA385807532
231 D>N No ClinGen
gnomAD
TCGA novel 231 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA239310422
rs901056089
235 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA6693024
rs188885620
235 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6693023
rs188885620
235 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs17853239
CA239310405
247 K>R No ClinGen
Ensembl
CA6693020
rs765481167
248 H>R No ClinGen
ExAC
gnomAD
rs761971509
CA6693019
252 N>I No ClinGen
ExAC
gnomAD
rs777235058
CA6693018
253 K>E No ClinGen
ExAC
TOPMed
gnomAD
COSM75183
rs368830982
CA6693017
254 R>C ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs761193901
CA6693016
COSM1364229
254 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA6693015
rs775728423
255 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs772354362
CA6693014
257 P>A No ClinGen
ExAC
gnomAD
rs1262355242
CA385807138
257 P>L No ClinGen
gnomAD
TCGA novel 258 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773976000
CA6693012
260 K>N No ClinGen
ExAC
gnomAD
TCGA novel 261 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1050532182
CA239310374
265 E>G No ClinGen
TOPMed
CA385807012
rs1338119127
265 E>K No ClinGen
TOPMed
gnomAD
rs748720677
CA6693008
266 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs551077175
CA6693007
267 T>M No ClinGen
1000Genomes
ExAC
gnomAD
CA6693002
rs750732688
273 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1438977017
CA385806863
273 Q>K No ClinGen
TOPMed
CA239310292
rs940122183
274 P>R No ClinGen
Ensembl
rs17853240
CA239310287
275 E>K No ClinGen
Ensembl
CA385806798
rs1185504419
276 S>I No ClinGen
gnomAD
CA6692983
rs768623012
278 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs746830762
CA6692982
278 I>M No ClinGen
ExAC
gnomAD
rs779945359
CA6692981
279 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs373922981
CA6692977
284 S>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6692978
rs373922981
284 S>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1450653214
CA385806493
288 F>L No ClinGen
gnomAD
rs753248715
CA6692976
289 L>W No ClinGen
ExAC
gnomAD
CA6692973
rs139059786
293 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1566103851
CA385806377
294 K>E No ClinGen
Ensembl
CA6692972
rs751946450
294 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA385806352
rs1481761266
295 K>R No ClinGen
TOPMed
rs370477950
CA6692970
296 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs577073370
CA6692971
296 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6692968
rs764714445
298 K>Q No ClinGen
ExAC
gnomAD
rs1003764963
CA239308877
299 M>R No ClinGen
TOPMed
gnomAD
CA385806279
rs1003764963
299 M>T No ClinGen
TOPMed
gnomAD
CA385806259
rs1414311297
300 E>G No ClinGen
TOPMed
rs375580761
CA6692966
301 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1362010247
CA385806231
302 I>M No ClinGen
gnomAD
CA385806233
rs1566103813
302 I>T No ClinGen
Ensembl
CA6692965
rs535120586
302 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA385806224
rs372522544
303 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6692942
rs1594066725
304 A>A No ClinGen
Ensembl
CA6692943
rs373507415
304 A>D No ClinGen
ESP
TOPMed
CA6692941
rs570700905
307 A>G No ClinGen
1000Genomes
ExAC
gnomAD
CA239305443
rs570700905
307 A>V No ClinGen
1000Genomes
ExAC
gnomAD
CA6692939
rs773973140
310 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA6692938
rs770080673
311 S>G No ClinGen
ExAC
gnomAD
CA6692937
rs781256310
311 S>I No ClinGen
ExAC
TOPMed
gnomAD
CA6692936
rs781256310
311 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA6692935
rs369198555
312 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs747573872
CA6692934
312 K>T No ClinGen
ExAC
gnomAD
CA385805841
rs1389090924
316 E>D No ClinGen
gnomAD
TCGA novel 316 E>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758729953
CA6692932
317 R>I No ClinGen
ExAC
gnomAD
rs1462223482
CA385805782
320 A>T No ClinGen
gnomAD
CA385805774
rs1245540882
320 A>V No ClinGen
gnomAD
CA385805720
rs1202291662
323 P>L No ClinGen
gnomAD
rs750831850
CA6692931
324 P>S No ClinGen
ExAC
gnomAD
rs1194518608
CA385805643
328 P>R No ClinGen
TOPMed
CA239305360
rs376955252
329 I>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376955252
CA6692929
329 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs765462145
CA6692930
329 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA6692928
rs753534788
330 V>A No ClinGen
ExAC
gnomAD
CA6692927
rs763753001
334 E>K No ClinGen
ExAC
gnomAD
rs376672311
CA239303309
335 A>V No ClinGen
ESP
CA6692899
rs779398848
336 S>F No ClinGen
ExAC
gnomAD
rs1400723533
CA385805508
337 T>A No ClinGen
gnomAD
rs1212848424
CA385805502
338 E>A No ClinGen
TOPMed
rs757680953
CA6692898
338 E>Q No ClinGen
ExAC
gnomAD
CA239303290
rs17853238
339 T>A No ClinGen
TOPMed
rs17853238
CA385805496
339 T>S No ClinGen
TOPMed
CA385805491
rs1405717582
340 K>E No ClinGen
gnomAD
TCGA novel 340 K>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6692897
rs753590345
341 I>F No ClinGen
ExAC
gnomAD
rs1200492532
CA385805479
341 I>M No ClinGen
gnomAD
CA385805482
rs1251518165
341 I>T No ClinGen
gnomAD
rs1263838033
CA385805468
343 V>L No ClinGen
gnomAD
CA385805459
rs1220946410
344 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 345 S>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1452712341
CA385805453
345 S>I No ClinGen
TOPMed
CA385805450
rs1286300268
346 I>V No ClinGen
gnomAD
rs755783070
CA6692895
348 E>Q No ClinGen
ExAC
gnomAD
TCGA novel 352 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs374297882
CA6692893
352 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs751449948
CA6692891
COSM943497
354 K>N Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs933038188
CA239303145
355 N>S No ClinGen
TOPMed
rs566245480
CA239303144
356 K>T No ClinGen
Ensembl
rs1594065032
CA919122038
357 K>E No ClinGen
Ensembl
rs1346422173
CA385805361
358 L>P No ClinGen
TOPMed
gnomAD
rs1345880739
CA385805364
358 L>V No ClinGen
TOPMed
gnomAD
CA385805353
rs766222607
360 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA6692888
rs766222607
360 A>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 360 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6692887
rs762715577
361 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA385805342
rs1411776262
362 T>A No ClinGen
gnomAD
CA6692886
rs760760484
362 T>I No ClinGen
ExAC
rs760760484
CA6692883
362 T>K No ClinGen
ExAC
rs760760484
CA6692884
362 T>R No ClinGen
ExAC
rs1400358932
CA385805331
364 E>A No ClinGen
TOPMed
rs1177607491
CA385805334
364 E>K No ClinGen
gnomAD
CA239303106
rs372067400
365 E>G No ClinGen
ESP
gnomAD
CA385805310
rs1265565227
367 A>S No ClinGen
gnomAD
rs775643670
CA6692882
368 L>F No ClinGen
ExAC
gnomAD
rs772040272
CA6692881
368 L>R No ClinGen
ExAC
rs1201385452
CA385805298
369 K>R No ClinGen
gnomAD
rs1328454253
CA385805277
372 A>T No ClinGen
TOPMed
rs746442927
CA6692879
375 K>E No ClinGen
ExAC
gnomAD
TCGA novel 375 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs933617147
CA239303035
377 K>E No ClinGen
Ensembl
rs530056027
CA6692876
377 K>N No ClinGen
1000Genomes
TOPMed
rs1262076078
CA385805223
379 K>R No ClinGen
TOPMed
gnomAD
rs140273898
CA6692870
381 K>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs761148574 381 K>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1260836798
CA385805199
382 K>S No ClinGen
gnomAD

No associated diseases with Q13601

1 regional properties for Q13601

Type Name Position InterPro Accession
domain Ribosome receptor lysine/proline rich 29 - 166 IPR007794

Functions

Description
EC Number
Subcellular Localization
  • Nucleus, nucleolus
  • ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

7 GO annotations of cellular component

Name Definition
chromosome A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
intercellular bridge A direct connection between the cytoplasm of two cells that is formed following the completion of cleavage furrow ingression during cell division. They are usually present only briefly prior to completion of cytokinesis. However, in some cases, such as the bridges between germ cells during their development, they become stabilised.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
nucleolus A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
small-subunit processome A large ribonucleoprotein complex that is an early preribosomal complex. In S. cerevisiae, it has a size of 80S and consists of the 35S pre-rRNA, early-associating ribosomal proteins most of which are part of the small ribosomal subunit, the U3 snoRNA and associated proteins.

1 GO annotations of molecular function

Name Definition
RNA binding Binding to an RNA molecule or a portion thereof.

1 GO annotations of biological process

Name Definition
rRNA processing Any process involved in the conversion of a primary ribosomal RNA (rRNA) transcript into one or more mature rRNA molecules.

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q3B7L9 KRR1 KRR1 small subunit processome component homolog Bos taurus (Bovine) PR
10 20 30 40 50 60
MASPSLERPE KGAGKSEFRN QKPKPENQDE SELLTVPDGW KEPAFSKEDN PRGLLEESSF
70 80 90 100 110 120
ATLFPKYREA YLKECWPLVQ KALNEHHVNA TLDLIEGSMT VCTTKKTFDP YIIIRARDLI
130 140 150 160 170 180
KLLARSVSFE QAVRILQDDV ACDIIKIGSL VRNKERFVKR RQRLIGPKGS TLKALELLTN
190 200 210 220 230 240
CYIMVQGNTV SAIGPFSGLK EVRKVVLDTM KNIHPIYNIK SLMIKRELAK DSELRSQSWE
250 260 270 280 290 300
RFLPQFKHKN VNKRKEPKKK TVKKEYTPFP PPQPESQIDK ELASGEYFLK ANQKKRQKME
310 320 330 340 350 360
AIKAKQAEAI SKRQEERNKA FIPPKEKPIV KPKEASTETK IDVASIKEKV KKAKNKKLGA
370 380
LTAEEIALKM EADEKKKKKK K